Research

Marcus Gunn syndrome

Marcus Gunn Jaw Winking Syndrome consists of elevation or depression of the eyelid on chewing/suckling and may occur either in one or both eyes, with or without congenital ptosis. It is hypothesized that axons, intended to travel within the motor branch of the trigeminal nerve (Cranial Nerve V) to innervate the ipsilateral pterygoid muscle, aberrantly (deviating from the normal course) innervate myofibers of the Levator Palpebrae Superioris (LPS)-the muscle that elevates and retracts the upper eyelid, which is normally innervated by a branch of Cranial Nerve III.

Individual with CFEOM1 and Marcus Gunn Syndrome-he controls his left eye position using his mouth position.

Marcus Gunn Jaw Winking Syndrome can occur in association with complex strabismus conditions such as Duane syndrome and CFEOM1,2. The boy to the right has bilateral congenital ptosis, upgaze limitation and, prior to extrocular muscle surgery, exhibited the Marcus Gunn phenomenon.

The majority of cases of this disorder are reported to be sporadic (isolated), although there are a few reports in the scientific literature of familial Marcus Gunn syndrome3.

Please contact Caroline Andrews to obtain further information on the genetic studies that we are undertaking and if you are interested in enrolling a patient or participating yourself.